Busch Lab

ZMP

LOC555750

Ensembl ID:
ENSDARG00000022203
Human Orthologues:
GTF2I, GTF2IRD1, RP11-301J16.2
Human Descriptions:
GTF2I repeat domain containing 1 [Source:HGNC Symbol;Acc:4661]
Novel protein similar to general transcription factor II, i GTF2I [Source:UniProtKB/TrEMBL;Acc:Q5TBT
general transcription factor IIi [Source:HGNC Symbol;Acc:4659]
Mouse Orthologues:
Gtf2i, Gtf2ird1
Mouse Descriptions:
general transcription factor II I Gene [Source:MGI Symbol;Acc:MGI:1202722]
general transcription factor II I repeat domain-containing 1 Gene [Source:MGI Symbol;Acc:MGI:1861942

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa10970 Essential Splice Site Available for shipment Available now
sa38515 Nonsense Mutation detected in F1 DNA Not yet available
sa14023 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa10970
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000074200 Essential Splice Site 311 973 5 26
Genomic Location (Zv9):
Chromosome 5 (position 61213856)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 58845983
GRCz11 5 59515692
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACGCCCGCCGAGGAAAAAGCCGTTCAGGCCAAGGAATGTGCTGACAATGG[T/C]AAGAGYGTGTAGGTGCTGCACCATACGGATGTTGTCNKTTTTTWAATRTA
Long Flanking Sequence:
TGATGTTCCTAAGGTAGAACAGGTAGTGTACATGGGGGCTAATAATTATATATACACACACACACACACACACACACACACACACACACACACACACACACACACACAAACATTTACCACTATATTGGAGTTTTTTTTAGACATGCATCATAAATCAAGCACTTCATGAACAAAGCCCAACAAATGTGTTTACTTTTTAACAGAACGCCGGAGGAACCCTCACGGGAAGCCAAATCCTGTCCGGAAGTCAACCATCACTCTTCGACCTCAAAGAGCGCTAGCAACCACACCTCAGTCAAACCCTCAGTGCAGGAAGTATCCGCCAGCAACTCCATGCTCTCCAGCTTCCTGTACGGGATGCCCATGTCCTCCCAGCCTCACTCGGACAGCAAGCTGGACCTCAAGCCAACGTCACTGCACAGCATCGGCAAAGAGCGGCCGGGCATGTGGACGCCCGCCGAGGAAAAAGCCGTTCAGGCCAAGGAATGTGCTGACAATGG[T/C]AAGAGCGTGTAGGTGCTGCACCATACGGATGTTGTCTTTTTTTTAATGTACATTACTCTGAGCTTATATCTCGGACTGCGTGTCTTTTCCAGGCGAGCGAATAGGGCTGGCAGCAGATCTTACCCAGAGCCCTCCCAGCATCCATGTCTCCAAGCGCCTTCTGTTCTCCATAGTGCATGAAAAATCAGGTGGGCGACAGACTGTACTTACCATTACTGAGTCTGGCCAAGGACAAGCTGGCCTTCATTTCAGTTGGGTTTTATGAGGTCCTTAGCAGCGTGTCTAATAGAAAGAGTCAGTTTCCTCTTAAAATGGCTAGGCAAAGGATCTTTTCAGAGTACTCTATAAAGGGATAGGTCATCCTAAAGTAAAAGTTGCTTCATGATTTGTTCAGCTCTGTTCATTTATAGTTTCAGCAGAGCACAAAACTGATTTTTGAACAATCTTAAAGGGTTAGATCACCCTAAAGTGTATATCTTGTCAGCAACCATTGATAGTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38515
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000074200 Nonsense 539 973 13 26
Genomic Location (Zv9):
Chromosome 5 (position 61228397)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 58860524
GRCz11 5 59530233
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCAGAATCCAGTGCTTCAACAGAGGAATCCAGTGAGCCTCAGGCTGAG[C/T]GAGTGACCCCTGACCTCTGTCGTCCCAAGGAGCCTGTCGCAGGTAACATC
Long Flanking Sequence:
AAAGACTTGACGCTGTAATTGCTGCCAAAGGTGCAACAACTAAGTATTGAGCAAAATCTGTAAATACTGATGTACATGTAATTTTTTTAGGCTTTTTATTTGTAATAAATTTGCAACTATTTAAAAAAATATTTTTTTCACATTGTCATTATGGGGTATTGTGTGTAGAATTTTTGAGGAAATAAATGAATTTATTCCATTTTGGAATAAGGCTGTAACATGAAAAAATGTGGAAAAAGTGAAGTGCAATGAATACTTTGTAATACGTTGTATTAATATTAACCAGTATTATTTGTTTTGCTGTATTTTTGATATAATAAATAAAGCACTGTTGAGCCTAACAGATTTTTTTCCACTTGCCTCATATTGGATTATTCCTAAATGCGTTATATATGACATTATATCATTAACCGAATGCTTTTTGAACACATTATCTCTTTTTTCCCGATCTGTCAGAATCCAGTGCTTCAACAGAGGAATCCAGTGAGCCTCAGGCTGAG[C/T]GAGTGACCCCTGACCTCTGTCGTCCCAAGGAGCCTGTCGCAGGTAACATCAAACTAGCTTATATCCGAACGTACTTCCTTATCCATCTTTTCTTCTCCCTGTGGTACTGCACAGATAATCCCAAGCATATGACAAATCAAAGCCTCTAATATAACCCTCTCCAATTTCTCATCCAGTTGCAAATCCCTCCACCGGTCTGTACCTGCCCTCCTACAAGCTATTAATGCCTGTTTAATAATCGTTATATATGCACATGTACATGTCTGTCTAACTAGCTGTCAAGTCCTTTCATGTAGAGACATTAATTTCAATGAGCTTATGCTCAACACAGGGATATTAAATGCTGATTTAGCCACTGCGCTGTGCGGAGAAATGAACTTCTGTGAAGATCGAAACAGCAGCATTTAATGTATAAGTCATAAAAACATAGGTTGAAGTATGGTAAGCCAAGAGTTTTGCATTTCTTATTTCATCTCCATTCCCAAAAACCCAAGACTTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14023
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000074200 Essential Splice Site 553 973 13 26
Genomic Location (Zv9):
Chromosome 5 (position 61228441)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 58860568
GRCz11 5 59530277
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTGAGCGAGTGACCCCTGACCTCTGTCGTCCCAAGGAGCCTGTCGCAGG[T/C]AACAWCAAACTAGCTTATATCCGAACRTACKTCCTTATCCATCTTTTCTT
Long Flanking Sequence:
TATTGAGCAAAATCTGTAAATACTGATGTACATGTAATTTTTTTAGGCTTTTTATTTGTAATAAATTTGCAACTATTTAAAAAAATATTTTTTTCACATTGTCATTATGGGGTATTGTGTGTAGAATTTTTGAGGAAATAAATGAATTTATTCCATTTTGGAATAAGGCTGTAACATGAAAAAATGTGGAAAAAGTGAAGTGCAATGAATACTTTGTAATACGTTGTATTAATATTAACCAGTATTATTTGTTTTGCTGTATTTTTGATATAATAAATAAAGCACTGTTGAGCCTAACAGATTTTTTTCCACTTGCCTCATATTGGATTATTCCTAAATGCGTTATATATGACATTATATCATTAACCGAATGCTTTTTGAACACATTATCTCTTTTTTCCCGATCTGTCAGAATCCAGTGCTTCAACAGAGGAATCCAGTGAGCCTCAGGCTGAGCGAGTGACCCCTGACCTCTGTCGTCCCAAGGAGCCTGTCGCAGG[T/C]AACATCAAACTAGCTTATATCCGAACGTACTTCCTTATCCATCTTTTCTTCTCCCTGTGGTACTGCACAGATAATCCCAAGCATATGACAAATCAAAGCCTCTAATATAACCCTCTCCAATTTCTCATCCAGTTGCAAATCCCTCCACCGGTCTGTACCTGCCCTCCTACAAGCTATTAATGCCTGTTTAATAATCGTTATATATGCACATGTACATGTCTGTCTAACTAGCTGTCAAGTCCTTTCATGTAGAGACATTAATTTCAATGAGCTTATGCTCAACACAGGGATATTAAATGCTGATTTAGCCACTGCGCTGTGCGGAGAAATGAACTTCTGTGAAGATCGAAACAGCAGCATTTAATGTATAAGTCATAAAAACATAGGTTGAAGTATGGTAAGCCAAGAGTTTTGCATTTCTTATTTCATCTCCATTCCCAAAAACCCAAGACTTGCCCAAATAGTGGTCCCAGCCCAAGTCCGATACAGATCCAGCGTGA
Associated Phenotype:
Not determined